ESPE Abstracts

Background: Several studies found a high prevalence of sleep disorders in PWS patients. It is assumed that Prader-Willi Syndrome (PWS) patients are at a high risk of sleep disordered breathing, such as obstructive sleep apnea (OSA), because of their childhood obesity, associated with muscle hypotonia, leading to upper airway collapse.Objective and hypotheses: We studied a group of PWS children (genetically confirmed, non-GH-treated) who performed complet...

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated gluco...

Introduction: Type 1 diabetes mellitus (T1D) is the most common form of carbohydrate metabolism disorder in childhood. There are also monogenic forms of diabetes. In the world literature, there are isolated mentions of the combination of monogenic and autoimmune forms of diabetes mellitus.Clinical case: A 10-year-old obese patient presented with hyperglycemia. At hospitalization: height 168 cm, weight 87 kg, SDS BMI +3.0. Glycemia 14.4 m...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: T...

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

Objectives: To investigate sensitivity, specificity and predictive values (PPV, NPP) of autoantibodies against 21-hydroxylase in APECED patients with and without adrenal insufficiency (AI) and in patients with other forms of AI.Methods: 42 patients with APECED and 24 patients with other forms of AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutations in AIRE gene and/or high levels of antibodie...